TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

J. J. Bakhuizen; F. B. Hogervorst; M. E. Velthuizen; M. W. Ruijs; K. van Engelen; T. A. van Os; J. J. Gille; M. Collee; A. M. van den Ouweland; C. J. van Asperen; C. M. Kets; A. R. Mensenkamp; E. M. Leter; M. J. Blok; M. M. de Jong; M. G. Ausems

doi:10.1007/s10689-018-00118-0

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

J. J. Bakhuizen^*, F. B. Hogervorst, M. E. Velthuizen, M. W. Ruijs, K. van Engelen, T. A. van Os, J. J. Gille, M. Collee, A. M. van den Ouweland, C. J. van Asperen, C. M. Kets, A. R. Mensenkamp, E. M. Leter, M. J. Blok, M. M. de Jong, M. G. Ausems

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was

Original language	English
Pages (from-to)	273-280
Number of pages	8
Journal	Familial Cancer
Volume	18
Issue number	2
DOIs	https://doi.org/10.1007/s10689-018-00118-0
Publication status	Published - Apr 2019

Keywords

Genetic testing
Li-Fraumeni syndrome
TP53
Breast cancer
Hereditary
LI-FRAUMENI SYNDROME
IMAGING SURVEILLANCE
CARRIERS
PREVALENCE
PHENOTYPE
GENOMICS
CRITERIA
RISKS
AGE

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Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collee, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M., & Ausems, M. G. (2019). TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort. Familial Cancer, 18(2), 273-280. https://doi.org/10.1007/s10689-018-00118-0

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title = "TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort",

abstract = "Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was",

keywords = "Genetic testing, Li-Fraumeni syndrome, TP53, Breast cancer, Hereditary, LI-FRAUMENI SYNDROME, IMAGING SURVEILLANCE, CARRIERS, PREVALENCE, PHENOTYPE, GENOMICS, CRITERIA, RISKS, AGE",

author = "Bakhuizen, {J. J.} and Hogervorst, {F. B.} and Velthuizen, {M. E.} and Ruijs, {M. W.} and {van Engelen}, K. and {van Os}, {T. A.} and Gille, {J. J.} and M. Collee and {van den Ouweland}, {A. M.} and {van Asperen}, {C. J.} and Kets, {C. M.} and Mensenkamp, {A. R.} and Leter, {E. M.} and Blok, {M. J.} and {de Jong}, {M. M.} and Ausems, {M. G.}",

note = "Publisher Copyright: {\textcopyright} 2019, Springer Nature B.V.",

year = "2019",

month = apr,

doi = "10.1007/s10689-018-00118-0",

language = "English",

volume = "18",

pages = "273--280",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer, Cham",

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Bakhuizen, JJ, Hogervorst, FB, Velthuizen, ME, Ruijs, MW, van Engelen, K, van Os, TA, Gille, JJ, Collee, M, van den Ouweland, AM, van Asperen, CJ, Kets, CM, Mensenkamp, AR, Leter, EM , Blok, MJ, de Jong, MM & Ausems, MG 2019, 'TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort', Familial Cancer, vol. 18, no. 2, pp. 273-280. https://doi.org/10.1007/s10689-018-00118-0

TY - JOUR

T1 - TP53 germline mutation testing in early-onset breast cancer

T2 - findings from a nationwide cohort

AU - Bakhuizen, J. J.

AU - Hogervorst, F. B.

AU - Velthuizen, M. E.

AU - Ruijs, M. W.

AU - van Engelen, K.

AU - van Os, T. A.

AU - Gille, J. J.

AU - Collee, M.

AU - van den Ouweland, A. M.

AU - van Asperen, C. J.

AU - Kets, C. M.

AU - Mensenkamp, A. R.

AU - Leter, E. M.

AU - Blok, M. J.

AU - de Jong, M. M.

AU - Ausems, M. G.

PY - 2019/4

Y1 - 2019/4

N2 - Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was

AB - Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was

KW - Genetic testing

KW - Li-Fraumeni syndrome

KW - TP53

KW - Breast cancer

KW - Hereditary

KW - LI-FRAUMENI SYNDROME

KW - IMAGING SURVEILLANCE

KW - CARRIERS

KW - PREVALENCE

KW - PHENOTYPE

KW - GENOMICS

KW - CRITERIA

KW - RISKS

KW - AGE

U2 - 10.1007/s10689-018-00118-0

DO - 10.1007/s10689-018-00118-0

M3 - Article

C2 - 30607672

SN - 1389-9600

VL - 18

SP - 273

EP - 280

JO - Familial Cancer

JF - Familial Cancer

IS - 2

ER -

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

Abstract

Keywords

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